Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification

• Published in: British journal of haematology Vol. 202; no. 5; pp. 1024 - 1032
• Main Authors: Nannelli, Caterina, Bosman, Andrea, Cunningham, Jane, Dugué, Pierre‐Antoine, Luzzatto, Lucio
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.09.2023
• Subjects: Anemia; Erythrocytes; G6PD deficiency; Gene frequency; Genetic diversity; Glucosephosphate dehydrogenase; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - genetics; glucose‐6‐phosphate dehydrogenase; haemolytic anaemia; Hematology; Hemolysis; Hemolytic anemia; Humans; Infant, Newborn; Jaundice; Literature reviews; Male; Neonates; Polymorphism, Genetic; Substrate preferences; WHO classification; World Health Organization; haemolytic anaemia; glucose-6-phosphate dehydrogenase; WHO classification; G6PD deficiency

Summary Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in erythrocytes causes acute haemolytic anaemia upon exposure to fava beans, drugs, or infection; and it predisposes to neonatal jaundice. The polymorphism of the X‐linked G6PD gene has been studied extensively: allele frequencies of up to...